Canonical Allele Identifier: CA1648539
Community Standard Title: NM_001743.6(CALM2):c.421+3A>G
Gene: CALM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47161720T>C , CM000664.2:g.47161720T>C GRCh38
NC_000002.11:g.47388859T>C , CM000664.1:g.47388859T>C GRCh37
NC_000002.10:g.47242363T>C NCBI36
NG_042065.1:g.20217A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001743.6:c.421+3A>G MANE Select NP_001734.1:n.421+3A>G
ENST00000272298.12:c.421+3A>G MANE Select ENSP00000272298.7:n.421+3A>G
NM_001305624.1:c.565+3A>G NP_001292553.1:n.565+3A>G
NM_001305625.1:c.313+3A>G NP_001292554.1:n.313+3A>G
NM_001305625.2:c.313+3A>G NP_001292554.1:n.313+3A>G
NM_001305626.1:c.313+3A>G NP_001292555.1:n.313+3A>G
NM_001743.4:c.421+3A>G NP_001734.1:n.421+3A>G
NM_001743.5:c.421+3A>G NP_001734.1:n.421+3A>G
ENST00000272298.11:c.421+3A>G ENSP00000272298.7:n.421+3A>G
ENST00000409563.5:c.562+3A>G ENSP00000387065.1:n.562+3A>G
ENST00000422269.1:c.103-8704A>G
ENST00000432899.5:c.*116+3A>G ENSP00000406112.1:n.*116+3A>G
ENST00000456319.5:c.535+3A>G ENSP00000411440.1:n.535+3A>G
ENST00000456319.6:c.313+3A>G ENSP00000411440.2:n.313+3A>G
ENST00000460218.5:n.3861+3A>G
ENST00000482532.5:n.1688+3A>G
ENST00000628793.2:c.223+3A>G ENSP00000486952.1:n.223+3A>G
ENST00000652974.1:c.*405+3A>G ENSP00000499369.1:n.*405+3A>G
ENST00000655450.1:c.313+3A>G ENSP00000499266.1:n.313+3A>G
ENST00000655728.1:c.313+3A>G ENSP00000499656.1:n.313+3A>G
ENST00000656538.1:c.313+3A>G ENSP00000499357.1:n.313+3A>G
ENST00000668667.1:c.313+3A>G ENSP00000499706.1:n.313+3A>G
ENST00000670593.1:n.1326+3A>G